Aida Lemes

Montevideo, MO, Uruguay

Last Updated: 09/26/2026

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Found 8 publications

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Journal: Neurology. Genetics
Published: January 17, 2025

Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.

Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.

Journal: Nutrients
Published: May 30, 2021

Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease.

Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease.

Journal: Mitochondrion
Published: May 11, 2021

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Journal: American journal of human genetics
Published: November 04, 2017

3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.

3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.

Journal: Mitochondrion
Published: January 12, 2016

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

Journal: Clinical genetics
Published: July 15, 2014

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.

Journal: Genetics and molecular biology
Published: February 06, 2014

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

Journal: Journal of child neurology
Published: September 12, 2012
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Last Updated: 09/26/2026